Lee B - Search Results

1

Characterization of a new syndrome that associates craniosynostosis, delayed fontanel closure, parietal foramina, imperforate anus, and skin eruption: CDAGS.

Mendoza-Londono R, Lammer E, Watson R, Harper J, Hatamochi A, Hatamochi-Hayashi S, Napierala D, Hermanns P, Collins S, Roa BB, Hedge MR, Wakui K, Nguyen D, Stockton DW, Lee B. Mendoza-Londono R, et al. Among authors: lee b. Am J Hum Genet. 2005 Jul;77(1):161-8. doi: 10.1086/431654. Epub 2005 May 27. Am J Hum Genet. 2005. PMID: 15924278 Free PMC article.

2

Infantile hypotonia as a presentation of Rett syndrome.

Heilstedt HA, Shahbazian MD, Lee B. Heilstedt HA, et al. Among authors: lee b. Am J Med Genet. 2002 Aug 15;111(3):238-42. doi: 10.1002/ajmg.10633. Am J Med Genet. 2002. PMID: 12210319

3

Crane-Heise syndrome: a second familial case report with elaboration of phenotype.

Zand DJ, Carpentieri D, Huff D, Medne L, Napierala D, Lee B, Zackai E. Zand DJ, et al. Among authors: lee b. Am J Med Genet A. 2003 Apr 30;118A(3):223-8. doi: 10.1002/ajmg.a.10026. Am J Med Genet A. 2003. PMID: 12673651

4

Skeletal defects in paternal uniparental disomy for chromosome 14 are re-capitulated in the mouse model (paternal uniparental disomy 12).

Sutton VR, McAlister WH, Bertin TK, Kaffe S, Wang JC, Yano S, Shaffer LG, Lee B, Epstein CJ, Villar AJ. Sutton VR, et al. Among authors: lee b. Hum Genet. 2003 Oct;113(5):447-51. doi: 10.1007/s00439-003-0981-x. Epub 2003 Aug 21. Hum Genet. 2003. PMID: 12938037

5

von Voss-Cherstvoy syndrome with transient thrombocytopenia and normal psychomotor development.

Brunetti-Pierri N, Mendoza-Londono R, Shah MR, Karaviti L, Lee B. Brunetti-Pierri N, et al. Among authors: lee b. Am J Med Genet A. 2004 Apr 30;126A(3):299-302. doi: 10.1002/ajmg.a.20593. Am J Med Genet A. 2004. PMID: 15054846 Review.

6

Dysregulation of chondrogenesis in human cleidocranial dysplasia.

Zheng Q, Sebald E, Zhou G, Chen Y, Wilcox W, Lee B, Krakow D. Zheng Q, et al. Among authors: lee b. Am J Hum Genet. 2005 Aug;77(2):305-12. doi: 10.1086/432261. Epub 2005 Jun 10. Am J Hum Genet. 2005. PMID: 15952089 Free PMC article.

7

The natural history of severe anemia in cartilage-hair hypoplasia.

Williams MS, Ettinger RS, Hermanns P, Lee B, Carlsson G, Taskinen M, Mäkitie O. Williams MS, et al. Among authors: lee b. Am J Med Genet A. 2005 Sep 15;138(1):35-40. doi: 10.1002/ajmg.a.30902. Am J Med Genet A. 2005. PMID: 16097009

8

Mutations and promoter SNPs in RUNX2, a transcriptional regulator of bone formation.

Napierala D, Garcia-Rojas X, Sam K, Wakui K, Chen C, Mendoza-Londono R, Zhou G, Zheng Q, Lee B. Napierala D, et al. Among authors: lee b. Mol Genet Metab. 2005 Sep-Oct;86(1-2):257-68. doi: 10.1016/j.ymgme.2005.07.012. Mol Genet Metab. 2005. PMID: 16140555

9

Expression profiling of human fetal growth plate cartilage by EST sequencing.

Tagariello A, Schlaubitz S, Hankeln T, Mohrmann G, Stelzer C, Schweizer A, Hermanns P, Lee B, Schmidt ER, Winterpacht A, Zabel B. Tagariello A, et al. Among authors: lee b. Matrix Biol. 2005 Dec;24(8):530-8. doi: 10.1016/j.matbio.2005.08.002. Epub 2005 Sep 19. Matrix Biol. 2005. PMID: 16176871

10

Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia.

Hermanns P, Bertuch AA, Bertin TK, Dawson B, Schmitt ME, Shaw C, Zabel B, Lee B. Hermanns P, et al. Among authors: lee b. Hum Mol Genet. 2005 Dec 1;14(23):3723-40. doi: 10.1093/hmg/ddi403. Epub 2005 Oct 27. Hum Mol Genet. 2005. PMID: 16254002

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